NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000112014.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer)]

NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer)

Other names:

3307delCCinsG

HGVS:

NC_000017.11:g.43092342_43092343delinsC
NG_005905.2:g.125641_125642delinsG
NG_087068.1:g.1324_1325delinsC
NM_001407571.1:c.2975_2976delinsG
NM_001407581.1:c.3188_3189delinsG
NM_001407582.1:c.3188_3189delinsG
NM_001407583.1:c.3188_3189delinsG
NM_001407585.1:c.3188_3189delinsG
NM_001407587.1:c.3185_3186delinsG
NM_001407590.1:c.3185_3186delinsG
NM_001407591.1:c.3185_3186delinsG
NM_001407593.1:c.3188_3189delinsG
NM_001407594.1:c.3188_3189delinsG
NM_001407596.1:c.3188_3189delinsG
NM_001407597.1:c.3188_3189delinsG
NM_001407598.1:c.3188_3189delinsG
NM_001407602.1:c.3188_3189delinsG
NM_001407603.1:c.3188_3189delinsG
NM_001407605.1:c.3188_3189delinsG
NM_001407610.1:c.3185_3186delinsG
NM_001407611.1:c.3185_3186delinsG
NM_001407612.1:c.3185_3186delinsG
NM_001407613.1:c.3185_3186delinsG
NM_001407614.1:c.3185_3186delinsG
NM_001407615.1:c.3185_3186delinsG
NM_001407616.1:c.3188_3189delinsG
NM_001407617.1:c.3188_3189delinsG
NM_001407618.1:c.3188_3189delinsG
NM_001407619.1:c.3188_3189delinsG
NM_001407620.1:c.3188_3189delinsG
NM_001407621.1:c.3188_3189delinsG
NM_001407622.1:c.3188_3189delinsG
NM_001407623.1:c.3188_3189delinsG
NM_001407624.1:c.3188_3189delinsG
NM_001407625.1:c.3188_3189delinsG
NM_001407626.1:c.3188_3189delinsG
NM_001407627.1:c.3185_3186delinsG
NM_001407628.1:c.3185_3186delinsG
NM_001407629.1:c.3185_3186delinsG
NM_001407630.1:c.3185_3186delinsG
NM_001407631.1:c.3185_3186delinsG
NM_001407632.1:c.3185_3186delinsG
NM_001407633.1:c.3185_3186delinsG
NM_001407634.1:c.3185_3186delinsG
NM_001407635.1:c.3185_3186delinsG
NM_001407636.1:c.3185_3186delinsG
NM_001407637.1:c.3185_3186delinsG
NM_001407638.1:c.3185_3186delinsG
NM_001407639.1:c.3188_3189delinsG
NM_001407640.1:c.3188_3189delinsG
NM_001407641.1:c.3188_3189delinsG
NM_001407642.1:c.3188_3189delinsG
NM_001407644.1:c.3185_3186delinsG
NM_001407645.1:c.3185_3186delinsG
NM_001407646.1:c.3179_3180delinsG
NM_001407647.1:c.3179_3180delinsG
NM_001407648.1:c.3065_3066delinsG
NM_001407649.1:c.3062_3063delinsG
NM_001407652.1:c.3188_3189delinsG
NM_001407653.1:c.3110_3111delinsG
NM_001407654.1:c.3110_3111delinsG
NM_001407655.1:c.3110_3111delinsG
NM_001407656.1:c.3110_3111delinsG
NM_001407657.1:c.3110_3111delinsG
NM_001407658.1:c.3110_3111delinsG
NM_001407659.1:c.3107_3108delinsG
NM_001407660.1:c.3107_3108delinsG
NM_001407661.1:c.3107_3108delinsG
NM_001407662.1:c.3107_3108delinsG
NM_001407663.1:c.3110_3111delinsG
NM_001407664.1:c.3065_3066delinsG
NM_001407665.1:c.3065_3066delinsG
NM_001407666.1:c.3065_3066delinsG
NM_001407667.1:c.3065_3066delinsG
NM_001407668.1:c.3065_3066delinsG
NM_001407669.1:c.3065_3066delinsG
NM_001407670.1:c.3062_3063delinsG
NM_001407671.1:c.3062_3063delinsG
NM_001407672.1:c.3062_3063delinsG
NM_001407673.1:c.3062_3063delinsG
NM_001407674.1:c.3065_3066delinsG
NM_001407675.1:c.3065_3066delinsG
NM_001407676.1:c.3065_3066delinsG
NM_001407677.1:c.3065_3066delinsG
NM_001407678.1:c.3065_3066delinsG
NM_001407679.1:c.3065_3066delinsG
NM_001407680.1:c.3065_3066delinsG
NM_001407681.1:c.3065_3066delinsG
NM_001407682.1:c.3065_3066delinsG
NM_001407683.1:c.3065_3066delinsG
NM_001407684.1:c.3188_3189delinsG
NM_001407685.1:c.3062_3063delinsG
NM_001407686.1:c.3062_3063delinsG
NM_001407687.1:c.3062_3063delinsG
NM_001407688.1:c.3062_3063delinsG
NM_001407689.1:c.3062_3063delinsG
NM_001407690.1:c.3062_3063delinsG
NM_001407691.1:c.3062_3063delinsG
NM_001407692.1:c.3047_3048delinsG
NM_001407694.1:c.3047_3048delinsG
NM_001407695.1:c.3047_3048delinsG
NM_001407696.1:c.3047_3048delinsG
NM_001407697.1:c.3047_3048delinsG
NM_001407698.1:c.3047_3048delinsG
NM_001407724.1:c.3047_3048delinsG
NM_001407725.1:c.3047_3048delinsG
NM_001407726.1:c.3047_3048delinsG
NM_001407727.1:c.3047_3048delinsG
NM_001407728.1:c.3047_3048delinsG
NM_001407729.1:c.3047_3048delinsG
NM_001407730.1:c.3047_3048delinsG
NM_001407731.1:c.3047_3048delinsG
NM_001407732.1:c.3047_3048delinsG
NM_001407733.1:c.3047_3048delinsG
NM_001407734.1:c.3047_3048delinsG
NM_001407735.1:c.3047_3048delinsG
NM_001407736.1:c.3047_3048delinsG
NM_001407737.1:c.3047_3048delinsG
NM_001407738.1:c.3047_3048delinsG
NM_001407739.1:c.3047_3048delinsG
NM_001407740.1:c.3044_3045delinsG
NM_001407741.1:c.3044_3045delinsG
NM_001407742.1:c.3044_3045delinsG
NM_001407743.1:c.3044_3045delinsG
NM_001407744.1:c.3044_3045delinsG
NM_001407745.1:c.3044_3045delinsG
NM_001407746.1:c.3044_3045delinsG
NM_001407747.1:c.3044_3045delinsG
NM_001407748.1:c.3044_3045delinsG
NM_001407749.1:c.3044_3045delinsG
NM_001407750.1:c.3047_3048delinsG
NM_001407751.1:c.3047_3048delinsG
NM_001407752.1:c.3047_3048delinsG
NM_001407838.1:c.3044_3045delinsG
NM_001407839.1:c.3044_3045delinsG
NM_001407841.1:c.3044_3045delinsG
NM_001407842.1:c.3044_3045delinsG
NM_001407843.1:c.3044_3045delinsG
NM_001407844.1:c.3044_3045delinsG
NM_001407845.1:c.3044_3045delinsG
NM_001407846.1:c.3044_3045delinsG
NM_001407847.1:c.3044_3045delinsG
NM_001407848.1:c.3044_3045delinsG
NM_001407849.1:c.3044_3045delinsG
NM_001407850.1:c.3047_3048delinsG
NM_001407851.1:c.3047_3048delinsG
NM_001407852.1:c.3047_3048delinsG
NM_001407853.1:c.2975_2976delinsG
NM_001407854.1:c.3188_3189delinsG
NM_001407858.1:c.3188_3189delinsG
NM_001407859.1:c.3188_3189delinsG
NM_001407860.1:c.3185_3186delinsG
NM_001407861.1:c.3185_3186delinsG
NM_001407862.1:c.2987_2988delinsG
NM_001407863.1:c.3065_3066delinsG
NM_001407874.1:c.2984_2985delinsG
NM_001407875.1:c.2984_2985delinsG
NM_001407879.1:c.2978_2979delinsG
NM_001407881.1:c.2978_2979delinsG
NM_001407882.1:c.2978_2979delinsG
NM_001407884.1:c.2978_2979delinsG
NM_001407885.1:c.2978_2979delinsG
NM_001407886.1:c.2978_2979delinsG
NM_001407887.1:c.2978_2979delinsG
NM_001407889.1:c.2978_2979delinsG
NM_001407894.1:c.2975_2976delinsG
NM_001407895.1:c.2975_2976delinsG
NM_001407896.1:c.2975_2976delinsG
NM_001407897.1:c.2975_2976delinsG
NM_001407898.1:c.2975_2976delinsG
NM_001407899.1:c.2975_2976delinsG
NM_001407900.1:c.2978_2979delinsG
NM_001407902.1:c.2978_2979delinsG
NM_001407904.1:c.2978_2979delinsG
NM_001407906.1:c.2978_2979delinsG
NM_001407907.1:c.2978_2979delinsG
NM_001407908.1:c.2978_2979delinsG
NM_001407909.1:c.2978_2979delinsG
NM_001407910.1:c.2978_2979delinsG
NM_001407915.1:c.2975_2976delinsG
NM_001407916.1:c.2975_2976delinsG
NM_001407917.1:c.2975_2976delinsG
NM_001407918.1:c.2975_2976delinsG
NM_001407919.1:c.3065_3066delinsG
NM_001407920.1:c.2924_2925delinsG
NM_001407921.1:c.2924_2925delinsG
NM_001407922.1:c.2924_2925delinsG
NM_001407923.1:c.2924_2925delinsG
NM_001407924.1:c.2924_2925delinsG
NM_001407925.1:c.2924_2925delinsG
NM_001407926.1:c.2924_2925delinsG
NM_001407927.1:c.2924_2925delinsG
NM_001407928.1:c.2924_2925delinsG
NM_001407929.1:c.2924_2925delinsG
NM_001407930.1:c.2921_2922delinsG
NM_001407931.1:c.2921_2922delinsG
NM_001407932.1:c.2921_2922delinsG
NM_001407933.1:c.2924_2925delinsG
NM_001407934.1:c.2921_2922delinsG
NM_001407935.1:c.2924_2925delinsG
NM_001407936.1:c.2921_2922delinsG
NM_001407937.1:c.3065_3066delinsG
NM_001407938.1:c.3065_3066delinsG
NM_001407939.1:c.3065_3066delinsG
NM_001407940.1:c.3062_3063delinsG
NM_001407941.1:c.3062_3063delinsG
NM_001407942.1:c.3047_3048delinsG
NM_001407943.1:c.3044_3045delinsG
NM_001407944.1:c.3047_3048delinsG
NM_001407945.1:c.3047_3048delinsG
NM_001407946.1:c.2855_2856delinsG
NM_001407947.1:c.2855_2856delinsG
NM_001407948.1:c.2855_2856delinsG
NM_001407949.1:c.2855_2856delinsG
NM_001407950.1:c.2855_2856delinsG
NM_001407951.1:c.2855_2856delinsG
NM_001407952.1:c.2855_2856delinsG
NM_001407953.1:c.2855_2856delinsG
NM_001407954.1:c.2852_2853delinsG
NM_001407955.1:c.2852_2853delinsG
NM_001407956.1:c.2852_2853delinsG
NM_001407957.1:c.2855_2856delinsG
NM_001407958.1:c.2852_2853delinsG
NM_001407959.1:c.2807_2808delinsG
NM_001407960.1:c.2807_2808delinsG
NM_001407962.1:c.2804_2805delinsG
NM_001407963.1:c.2807_2808delinsG
NM_001407964.1:c.3044_3045delinsG
NM_001407965.1:c.2684_2685delinsG
NM_001407966.1:c.2300_2301delinsG
NM_001407967.1:c.2300_2301delinsG
NM_001407968.1:c.788-204_788-203delinsG
NM_001407969.1:c.788-204_788-203delinsG
NM_001407970.1:c.788-1311_788-1310delinsG
NM_001407971.1:c.788-1311_788-1310delinsG
NM_001407972.1:c.785-1311_785-1310delinsG
NM_001407973.1:c.788-1311_788-1310delinsG
NM_001407974.1:c.788-1311_788-1310delinsG
NM_001407975.1:c.788-1311_788-1310delinsG
NM_001407976.1:c.788-1311_788-1310delinsG
NM_001407977.1:c.788-1311_788-1310delinsG
NM_001407978.1:c.788-1311_788-1310delinsG
NM_001407979.1:c.788-1311_788-1310delinsG
NM_001407980.1:c.788-1311_788-1310delinsG
NM_001407981.1:c.788-1311_788-1310delinsG
NM_001407982.1:c.788-1311_788-1310delinsG
NM_001407983.1:c.788-1311_788-1310delinsG
NM_001407984.1:c.785-1311_785-1310delinsG
NM_001407985.1:c.785-1311_785-1310delinsG
NM_001407986.1:c.785-1311_785-1310delinsG
NM_001407990.1:c.788-1311_788-1310delinsG
NM_001407991.1:c.785-1311_785-1310delinsG
NM_001407992.1:c.785-1311_785-1310delinsG
NM_001407993.1:c.788-1311_788-1310delinsG
NM_001408392.1:c.785-1311_785-1310delinsG
NM_001408396.1:c.785-1311_785-1310delinsG
NM_001408397.1:c.785-1311_785-1310delinsG
NM_001408398.1:c.785-1311_785-1310delinsG
NM_001408399.1:c.785-1311_785-1310delinsG
NM_001408400.1:c.785-1311_785-1310delinsG
NM_001408401.1:c.785-1311_785-1310delinsG
NM_001408402.1:c.785-1311_785-1310delinsG
NM_001408403.1:c.788-1311_788-1310delinsG
NM_001408404.1:c.788-1311_788-1310delinsG
NM_001408406.1:c.791-1320_791-1319delinsG
NM_001408407.1:c.785-1311_785-1310delinsG
NM_001408408.1:c.779-1311_779-1310delinsG
NM_001408409.1:c.710-1311_710-1310delinsG
NM_001408410.1:c.647-1311_647-1310delinsG
NM_001408411.1:c.710-1311_710-1310delinsG
NM_001408412.1:c.710-1311_710-1310delinsG
NM_001408413.1:c.707-1311_707-1310delinsG
NM_001408414.1:c.710-1311_710-1310delinsG
NM_001408415.1:c.710-1311_710-1310delinsG
NM_001408416.1:c.707-1311_707-1310delinsG
NM_001408418.1:c.671-1311_671-1310delinsG
NM_001408419.1:c.671-1311_671-1310delinsG
NM_001408420.1:c.671-1311_671-1310delinsG
NM_001408421.1:c.668-1311_668-1310delinsG
NM_001408422.1:c.671-1311_671-1310delinsG
NM_001408423.1:c.671-1311_671-1310delinsG
NM_001408424.1:c.668-1311_668-1310delinsG
NM_001408425.1:c.665-1311_665-1310delinsG
NM_001408426.1:c.665-1311_665-1310delinsG
NM_001408427.1:c.665-1311_665-1310delinsG
NM_001408428.1:c.665-1311_665-1310delinsG
NM_001408429.1:c.665-1311_665-1310delinsG
NM_001408430.1:c.665-1311_665-1310delinsG
NM_001408431.1:c.668-1311_668-1310delinsG
NM_001408432.1:c.662-1311_662-1310delinsG
NM_001408433.1:c.662-1311_662-1310delinsG
NM_001408434.1:c.662-1311_662-1310delinsG
NM_001408435.1:c.662-1311_662-1310delinsG
NM_001408436.1:c.665-1311_665-1310delinsG
NM_001408437.1:c.665-1311_665-1310delinsG
NM_001408438.1:c.665-1311_665-1310delinsG
NM_001408439.1:c.665-1311_665-1310delinsG
NM_001408440.1:c.665-1311_665-1310delinsG
NM_001408441.1:c.665-1311_665-1310delinsG
NM_001408442.1:c.665-1311_665-1310delinsG
NM_001408443.1:c.665-1311_665-1310delinsG
NM_001408444.1:c.665-1311_665-1310delinsG
NM_001408445.1:c.662-1311_662-1310delinsG
NM_001408446.1:c.662-1311_662-1310delinsG
NM_001408447.1:c.662-1311_662-1310delinsG
NM_001408448.1:c.662-1311_662-1310delinsG
NM_001408450.1:c.662-1311_662-1310delinsG
NM_001408451.1:c.653-1311_653-1310delinsG
NM_001408452.1:c.647-1311_647-1310delinsG
NM_001408453.1:c.647-1311_647-1310delinsG
NM_001408454.1:c.647-1311_647-1310delinsG
NM_001408455.1:c.647-1311_647-1310delinsG
NM_001408456.1:c.647-1311_647-1310delinsG
NM_001408457.1:c.647-1311_647-1310delinsG
NM_001408458.1:c.647-1311_647-1310delinsG
NM_001408459.1:c.647-1311_647-1310delinsG
NM_001408460.1:c.647-1311_647-1310delinsG
NM_001408461.1:c.647-1311_647-1310delinsG
NM_001408462.1:c.644-1311_644-1310delinsG
NM_001408463.1:c.644-1311_644-1310delinsG
NM_001408464.1:c.644-1311_644-1310delinsG
NM_001408465.1:c.644-1311_644-1310delinsG
NM_001408466.1:c.647-1311_647-1310delinsG
NM_001408467.1:c.647-1311_647-1310delinsG
NM_001408468.1:c.644-1311_644-1310delinsG
NM_001408469.1:c.647-1311_647-1310delinsG
NM_001408470.1:c.644-1311_644-1310delinsG
NM_001408472.1:c.788-1311_788-1310delinsG
NM_001408473.1:c.785-1311_785-1310delinsG
NM_001408474.1:c.587-1311_587-1310delinsG
NM_001408475.1:c.584-1311_584-1310delinsG
NM_001408476.1:c.587-1311_587-1310delinsG
NM_001408478.1:c.578-1311_578-1310delinsG
NM_001408479.1:c.578-1311_578-1310delinsG
NM_001408480.1:c.578-1311_578-1310delinsG
NM_001408481.1:c.578-1311_578-1310delinsG
NM_001408482.1:c.578-1311_578-1310delinsG
NM_001408483.1:c.578-1311_578-1310delinsG
NM_001408484.1:c.578-1311_578-1310delinsG
NM_001408485.1:c.578-1311_578-1310delinsG
NM_001408489.1:c.578-1311_578-1310delinsG
NM_001408490.1:c.575-1311_575-1310delinsG
NM_001408491.1:c.575-1311_575-1310delinsG
NM_001408492.1:c.578-1311_578-1310delinsG
NM_001408493.1:c.575-1311_575-1310delinsG
NM_001408494.1:c.548-1311_548-1310delinsG
NM_001408495.1:c.545-1311_545-1310delinsG
NM_001408496.1:c.524-1311_524-1310delinsG
NM_001408497.1:c.524-1311_524-1310delinsG
NM_001408498.1:c.524-1311_524-1310delinsG
NM_001408499.1:c.524-1311_524-1310delinsG
NM_001408500.1:c.524-1311_524-1310delinsG
NM_001408501.1:c.524-1311_524-1310delinsG
NM_001408502.1:c.455-1311_455-1310delinsG
NM_001408503.1:c.521-1311_521-1310delinsG
NM_001408504.1:c.521-1311_521-1310delinsG
NM_001408505.1:c.521-1311_521-1310delinsG
NM_001408506.1:c.461-1311_461-1310delinsG
NM_001408507.1:c.461-1311_461-1310delinsG
NM_001408508.1:c.452-1311_452-1310delinsG
NM_001408509.1:c.452-1311_452-1310delinsG
NM_001408510.1:c.407-1311_407-1310delinsG
NM_001408511.1:c.404-1311_404-1310delinsG
NM_001408512.1:c.284-1311_284-1310delinsG
NM_001408513.1:c.578-1311_578-1310delinsG
NM_001408514.1:c.578-1311_578-1310delinsG
NM_007294.4:c.3188_3189delinsGMANE SELECT
NM_007297.4:c.3047_3048delinsG
NM_007298.4:c.788-1311_788-1310delinsG
NM_007299.4:c.788-1311_788-1310delinsG
NM_007300.4:c.3188_3189delinsG
NP_001394500.1:p.Gly991_Ser992insTer
NP_001394510.1:p.Gly1062_Ser1063insTer
NP_001394511.1:p.Gly1062_Ser1063insTer
NP_001394512.1:p.Gly1062_Ser1063insTer
NP_001394514.1:p.Gly1062_Ser1063insTer
NP_001394516.1:p.Gly1061_Ser1062insTer
NP_001394519.1:p.Gly1061_Ser1062insTer
NP_001394520.1:p.Gly1061_Ser1062insTer
NP_001394522.1:p.Gly1062_Ser1063insTer
NP_001394523.1:p.Gly1062_Ser1063insTer
NP_001394525.1:p.Gly1062_Ser1063insTer
NP_001394526.1:p.Gly1062_Ser1063insTer
NP_001394527.1:p.Gly1062_Ser1063insTer
NP_001394531.1:p.Gly1062_Ser1063insTer
NP_001394532.1:p.Gly1062_Ser1063insTer
NP_001394534.1:p.Gly1062_Ser1063insTer
NP_001394539.1:p.Gly1061_Ser1062insTer
NP_001394540.1:p.Gly1061_Ser1062insTer
NP_001394541.1:p.Gly1061_Ser1062insTer
NP_001394542.1:p.Gly1061_Ser1062insTer
NP_001394543.1:p.Gly1061_Ser1062insTer
NP_001394544.1:p.Gly1061_Ser1062insTer
NP_001394545.1:p.Gly1062_Ser1063insTer
NP_001394546.1:p.Gly1062_Ser1063insTer
NP_001394547.1:p.Gly1062_Ser1063insTer
NP_001394548.1:p.Gly1062_Ser1063insTer
NP_001394549.1:p.Gly1062_Ser1063insTer
NP_001394550.1:p.Gly1062_Ser1063insTer
NP_001394551.1:p.Gly1062_Ser1063insTer
NP_001394552.1:p.Gly1062_Ser1063insTer
NP_001394553.1:p.Gly1062_Ser1063insTer
NP_001394554.1:p.Gly1062_Ser1063insTer
NP_001394555.1:p.Gly1062_Ser1063insTer
NP_001394556.1:p.Gly1061_Ser1062insTer
NP_001394557.1:p.Gly1061_Ser1062insTer
NP_001394558.1:p.Gly1061_Ser1062insTer
NP_001394559.1:p.Gly1061_Ser1062insTer
NP_001394560.1:p.Gly1061_Ser1062insTer
NP_001394561.1:p.Gly1061_Ser1062insTer
NP_001394562.1:p.Gly1061_Ser1062insTer
NP_001394563.1:p.Gly1061_Ser1062insTer
NP_001394564.1:p.Gly1061_Ser1062insTer
NP_001394565.1:p.Gly1061_Ser1062insTer
NP_001394566.1:p.Gly1061_Ser1062insTer
NP_001394567.1:p.Gly1061_Ser1062insTer
NP_001394568.1:p.Gly1062_Ser1063insTer
NP_001394569.1:p.Gly1062_Ser1063insTer
NP_001394570.1:p.Gly1062_Ser1063insTer
NP_001394571.1:p.Gly1062_Ser1063insTer
NP_001394573.1:p.Gly1061_Ser1062insTer
NP_001394574.1:p.Gly1061_Ser1062insTer
NP_001394575.1:p.Gly1059_Ser1060insTer
NP_001394576.1:p.Gly1059_Ser1060insTer
NP_001394577.1:p.Gly1021_Ser1022insTer
NP_001394578.1:p.Gly1020_Ser1021insTer
NP_001394581.1:p.Gly1062_Ser1063insTer
NP_001394582.1:p.Gly1036_Ser1037insTer
NP_001394583.1:p.Gly1036_Ser1037insTer
NP_001394584.1:p.Gly1036_Ser1037insTer
NP_001394585.1:p.Gly1036_Ser1037insTer
NP_001394586.1:p.Gly1036_Ser1037insTer
NP_001394587.1:p.Gly1036_Ser1037insTer
NP_001394588.1:p.Gly1035_Ser1036insTer
NP_001394589.1:p.Gly1035_Ser1036insTer
NP_001394590.1:p.Gly1035_Ser1036insTer
NP_001394591.1:p.Gly1035_Ser1036insTer
NP_001394592.1:p.Gly1036_Ser1037insTer
NP_001394593.1:p.Gly1021_Ser1022insTer
NP_001394594.1:p.Gly1021_Ser1022insTer
NP_001394595.1:p.Gly1021_Ser1022insTer
NP_001394596.1:p.Gly1021_Ser1022insTer
NP_001394597.1:p.Gly1021_Ser1022insTer
NP_001394598.1:p.Gly1021_Ser1022insTer
NP_001394599.1:p.Gly1020_Ser1021insTer
NP_001394600.1:p.Gly1020_Ser1021insTer
NP_001394601.1:p.Gly1020_Ser1021insTer
NP_001394602.1:p.Gly1020_Ser1021insTer
NP_001394603.1:p.Gly1021_Ser1022insTer
NP_001394604.1:p.Gly1021_Ser1022insTer
NP_001394605.1:p.Gly1021_Ser1022insTer
NP_001394606.1:p.Gly1021_Ser1022insTer
NP_001394607.1:p.Gly1021_Ser1022insTer
NP_001394608.1:p.Gly1021_Ser1022insTer
NP_001394609.1:p.Gly1021_Ser1022insTer
NP_001394610.1:p.Gly1021_Ser1022insTer
NP_001394611.1:p.Gly1021_Ser1022insTer
NP_001394612.1:p.Gly1021_Ser1022insTer
NP_001394613.1:p.Gly1062_Ser1063insTer
NP_001394614.1:p.Gly1020_Ser1021insTer
NP_001394615.1:p.Gly1020_Ser1021insTer
NP_001394616.1:p.Gly1020_Ser1021insTer
NP_001394617.1:p.Gly1020_Ser1021insTer
NP_001394618.1:p.Gly1020_Ser1021insTer
NP_001394619.1:p.Gly1020_Ser1021insTer
NP_001394620.1:p.Gly1020_Ser1021insTer
NP_001394621.1:p.Gly1015_Ser1016insTer
NP_001394623.1:p.Gly1015_Ser1016insTer
NP_001394624.1:p.Gly1015_Ser1016insTer
NP_001394625.1:p.Gly1015_Ser1016insTer
NP_001394626.1:p.Gly1015_Ser1016insTer
NP_001394627.1:p.Gly1015_Ser1016insTer
NP_001394653.1:p.Gly1015_Ser1016insTer
NP_001394654.1:p.Gly1015_Ser1016insTer
NP_001394655.1:p.Gly1015_Ser1016insTer
NP_001394656.1:p.Gly1015_Ser1016insTer
NP_001394657.1:p.Gly1015_Ser1016insTer
NP_001394658.1:p.Gly1015_Ser1016insTer
NP_001394659.1:p.Gly1015_Ser1016insTer
NP_001394660.1:p.Gly1015_Ser1016insTer
NP_001394661.1:p.Gly1015_Ser1016insTer
NP_001394662.1:p.Gly1015_Ser1016insTer
NP_001394663.1:p.Gly1015_Ser1016insTer
NP_001394664.1:p.Gly1015_Ser1016insTer
NP_001394665.1:p.Gly1015_Ser1016insTer
NP_001394666.1:p.Gly1015_Ser1016insTer
NP_001394667.1:p.Gly1015_Ser1016insTer
NP_001394668.1:p.Gly1015_Ser1016insTer
NP_001394669.1:p.Gly1014_Ser1015insTer
NP_001394670.1:p.Gly1014_Ser1015insTer
NP_001394671.1:p.Gly1014_Ser1015insTer
NP_001394672.1:p.Gly1014_Ser1015insTer
NP_001394673.1:p.Gly1014_Ser1015insTer
NP_001394674.1:p.Gly1014_Ser1015insTer
NP_001394675.1:p.Gly1014_Ser1015insTer
NP_001394676.1:p.Gly1014_Ser1015insTer
NP_001394677.1:p.Gly1014_Ser1015insTer
NP_001394678.1:p.Gly1014_Ser1015insTer
NP_001394679.1:p.Gly1015_Ser1016insTer
NP_001394680.1:p.Gly1015_Ser1016insTer
NP_001394681.1:p.Gly1015_Ser1016insTer
NP_001394767.1:p.Gly1014_Ser1015insTer
NP_001394768.1:p.Gly1014_Ser1015insTer
NP_001394770.1:p.Gly1014_Ser1015insTer
NP_001394771.1:p.Gly1014_Ser1015insTer
NP_001394772.1:p.Gly1014_Ser1015insTer
NP_001394773.1:p.Gly1014_Ser1015insTer
NP_001394774.1:p.Gly1014_Ser1015insTer
NP_001394775.1:p.Gly1014_Ser1015insTer
NP_001394776.1:p.Gly1014_Ser1015insTer
NP_001394777.1:p.Gly1014_Ser1015insTer
NP_001394778.1:p.Gly1014_Ser1015insTer
NP_001394779.1:p.Gly1015_Ser1016insTer
NP_001394780.1:p.Gly1015_Ser1016insTer
NP_001394781.1:p.Gly1015_Ser1016insTer
NP_001394782.1:p.Gly991_Ser992insTer
NP_001394783.1:p.Gly1062_Ser1063insTer
NP_001394787.1:p.Gly1062_Ser1063insTer
NP_001394788.1:p.Gly1062_Ser1063insTer
NP_001394789.1:p.Gly1061_Ser1062insTer
NP_001394790.1:p.Gly1061_Ser1062insTer
NP_001394791.1:p.Gly995_Ser996insTer
NP_001394792.1:p.Gly1021_Ser1022insTer
NP_001394803.1:p.Gly994_Ser995insTer
NP_001394804.1:p.Gly994_Ser995insTer
NP_001394808.1:p.Gly992_Ser993insTer
NP_001394810.1:p.Gly992_Ser993insTer
NP_001394811.1:p.Gly992_Ser993insTer
NP_001394813.1:p.Gly992_Ser993insTer
NP_001394814.1:p.Gly992_Ser993insTer
NP_001394815.1:p.Gly992_Ser993insTer
NP_001394816.1:p.Gly992_Ser993insTer
NP_001394818.1:p.Gly992_Ser993insTer
NP_001394823.1:p.Gly991_Ser992insTer
NP_001394824.1:p.Gly991_Ser992insTer
NP_001394825.1:p.Gly991_Ser992insTer
NP_001394826.1:p.Gly991_Ser992insTer
NP_001394827.1:p.Gly991_Ser992insTer
NP_001394828.1:p.Gly991_Ser992insTer
NP_001394829.1:p.Gly992_Ser993insTer
NP_001394831.1:p.Gly992_Ser993insTer
NP_001394833.1:p.Gly992_Ser993insTer
NP_001394835.1:p.Gly992_Ser993insTer
NP_001394836.1:p.Gly992_Ser993insTer
NP_001394837.1:p.Gly992_Ser993insTer
NP_001394838.1:p.Gly992_Ser993insTer
NP_001394839.1:p.Gly992_Ser993insTer
NP_001394844.1:p.Gly991_Ser992insTer
NP_001394845.1:p.Gly991_Ser992insTer
NP_001394846.1:p.Gly991_Ser992insTer
NP_001394847.1:p.Gly991_Ser992insTer
NP_001394848.1:p.Gly1021_Ser1022insTer
NP_001394849.1:p.Gly974_Ser975insTer
NP_001394850.1:p.Gly974_Ser975insTer
NP_001394851.1:p.Gly974_Ser975insTer
NP_001394852.1:p.Gly974_Ser975insTer
NP_001394853.1:p.Gly974_Ser975insTer
NP_001394854.1:p.Gly974_Ser975insTer
NP_001394855.1:p.Gly974_Ser975insTer
NP_001394856.1:p.Gly974_Ser975insTer
NP_001394857.1:p.Gly974_Ser975insTer
NP_001394858.1:p.Gly974_Ser975insTer
NP_001394859.1:p.Gly973_Ser974insTer
NP_001394860.1:p.Gly973_Ser974insTer
NP_001394861.1:p.Gly973_Ser974insTer
NP_001394862.1:p.Gly974_Ser975insTer
NP_001394863.1:p.Gly973_Ser974insTer
NP_001394864.1:p.Gly974_Ser975insTer
NP_001394865.1:p.Gly973_Ser974insTer
NP_001394866.1:p.Gly1021_Ser1022insTer
NP_001394867.1:p.Gly1021_Ser1022insTer
NP_001394868.1:p.Gly1021_Ser1022insTer
NP_001394869.1:p.Gly1020_Ser1021insTer
NP_001394870.1:p.Gly1020_Ser1021insTer
NP_001394871.1:p.Gly1015_Ser1016insTer
NP_001394872.1:p.Gly1014_Ser1015insTer
NP_001394873.1:p.Gly1015_Ser1016insTer
NP_001394874.1:p.Gly1015_Ser1016insTer
NP_001394875.1:p.Gly951_Ser952insTer
NP_001394876.1:p.Gly951_Ser952insTer
NP_001394877.1:p.Gly951_Ser952insTer
NP_001394878.1:p.Gly951_Ser952insTer
NP_001394879.1:p.Gly951_Ser952insTer
NP_001394880.1:p.Gly951_Ser952insTer
NP_001394881.1:p.Gly951_Ser952insTer
NP_001394882.1:p.Gly951_Ser952insTer
NP_001394883.1:p.Gly950_Ser951insTer
NP_001394884.1:p.Gly950_Ser951insTer
NP_001394885.1:p.Gly950_Ser951insTer
NP_001394886.1:p.Gly951_Ser952insTer
NP_001394887.1:p.Gly950_Ser951insTer
NP_001394888.1:p.Gly935_Ser936insTer
NP_001394889.1:p.Gly935_Ser936insTer
NP_001394891.1:p.Gly934_Ser935insTer
NP_001394892.1:p.Gly935_Ser936insTer
NP_001394893.1:p.Gly1014_Ser1015insTer
NP_001394894.1:p.Gly894_Ser895insTer
NP_001394895.1:p.Gly766_Ser767insTer
NP_001394896.1:p.Gly766_Ser767insTer
NP_009225.1:p.Gly1062_Ser1063insTer
NP_009225.1:p.Ser1063Terfs
NP_009228.2:p.Gly1015_Ser1016insTer
NP_009231.2:p.Gly1062_Ser1063insTer
LRG_292t1:c.3188_3189delCCinsG
LRG_292:g.125641_125642delinsG
LRG_292p1:p.Ser1063Terfs
NC_000017.10:g.41244359_41244360delinsC
NM_007294.3:c.3188_3189delCCinsG
NM_007294.3:c.3188_3189delCCinsG
NR_027676.1:n.3324_3325delCCinsG
U14680.1:n.3307_3308delCCinsG

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3307&base_change=del CC ins G; dbSNP: rs273899701

NCBI 1000 Genomes Browser:

rs273899701

Molecular consequence:

NM_001407968.1:c.788-204_788-203delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-204_788-203delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1320_791-1319delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1311_779-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1311_710-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1311_710-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1311_710-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1311_707-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1311_710-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1311_710-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1311_707-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1311_671-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1311_671-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1311_671-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1311_668-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1311_671-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1311_671-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1311_668-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1311_668-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1311_665-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1311_662-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1311_653-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1311_647-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1311_644-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1311_785-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1311_587-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1311_584-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1311_587-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1311_575-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1311_575-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1311_575-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1311_548-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1311_545-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1311_524-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1311_455-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1311_521-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1311_521-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1311_521-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1311_461-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1311_461-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1311_452-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1311_452-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1311_407-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1311_404-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1311_284-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1311_578-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1311_788-1310delinsG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3179_3180delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3179_3180delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3107_3108delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3107_3108delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3107_3108delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3107_3108delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3110_3111delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3185_3186delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2987_2988delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2984_2985delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2984_2985delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2978_2979delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2975_2976delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2921_2922delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2921_2922delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2921_2922delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2921_2922delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2924_2925delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2921_2922delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3065_3066delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3062_3063delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2852_2853delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2852_2853delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2852_2853delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2855_2856delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2852_2853delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2807_2808delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2807_2808delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2804_2805delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2807_2808delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3044_3045delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2684_2685delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2300_2301delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2300_2301delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3047_3048delinsG - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3188_3189delinsG - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144656	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000299893	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV005045959	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144656

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(Feb 20, 2004)

germline

clinical testing

SCV000299893

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV005045959

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 27, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144656.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299893.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045959.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PVS1; PM2_supporting; PM5_PTC_Strong

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine